Conditions / Genetic
PSPH deficiency
info · Genetic
A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
Signs and symptoms
- Cerebral atrophy
- Seizure
- Global developmental delay
- Postnatal growth retardation
- Intrauterine growth retardation
- Hyposerinemia
- Intellectual disability
- Hypertonia
- Microcephaly
Also known as: PSPHD; Phosphoserine phosphatase deficiency